InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNPTAB

Summary

InnateDB Protein

IDBP-593340.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GNPTAB

Protein Name

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000449150

InnateDB Gene

IDBG-53417 (GNPTAB)

Protein Structure

UniProt Annotation

Function

Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. {ECO:0000269PubMed:19955174, ECO:0000269PubMed:23733939}.

Subcellular Localization

N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane; Single-pass type I membrane protein.N-acetylglucosamine-1-phosphotransferase subunit beta: Golgi apparatus membrane; Single-pass type II membrane protein.

Disease Associations

Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269PubMed:16200072, ECO:0000269PubMed:16835905, ECO:0000269PubMed:19634183, ECO:0000269PubMed:22495880, ECO:0000269PubMed:23566849, ECO:0000269PubMed:23733939, ECO:0000269PubMed:23773965, ECO:0000269PubMed:24375680}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. {ECO:0000269PubMed:16094673, ECO:0000269PubMed:16465621, ECO:0000269PubMed:16630736, ECO:0000269PubMed:19197337, ECO:0000269PubMed:19634183, ECO:0000269PubMed:23566849, ECO:0000269PubMed:24045841, ECO:0000269PubMed:24375680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:16120602}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003976	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
GO:0005509	calcium ion binding
GO:0008134	transcription factor binding
GO:0016772	transferase activity, transferring phosphorus-containing groups